Mutation Analysis

There are several hundred different mutations known for Factor VIII (Hemophilia A) and almost as many for Factor IX (hemophilia B). In order to identify a hemophilia patient’s or a hemophilia carrier’s individual mutation, the whole Factor VIII gene or Factor IX gene may have to be interrogated (sequenced). Mutation analysis can therefore take up to two months and can only be carried out in specialized laboratories.

In addition to determination of carriers' clotting factor activity status, we offer chromosomal gene mutation analysis to identify the specific gene mutation for Factor VIII or Factor IX. Both tests are important to determine carrier status and move forward with family planning.

Family Planning

Sons whose mothers are carriers have a 50% chance to inherit the affected X chromosome and develop hemophilia. Daughters of carrier mothers have a 50% chance of becoming carriers. If males with hemophilia or female carriers wish to minimize the risk of passing on hemophilia to the next generation, we provide genetic counseling and discuss individualized options for family planning.

Options include gender selection, prenatal diagnosis, and preimplantation genetic diagnosis (PGD). With PGD, the carrier’s eggs are harvested after hormonal stimulation, and a diagnosis of hemophilia is made in the embryo after in-vitro fertilization with sperm. Non-affected embryos will subsequently be implanted and carried to term. We provide these services in collaboration with Reproductive Partners – UCSD Regional Fertility Center.

For more information on diagnosing carrier status and option for family planning, call the Hemophilia and Thrombosis Treatment Center at 619-471-0335, Monday to Friday, 8:30 a.m. to 4:30 p.m.